A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178574



Internal ID21626083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97260921..97260921hg38UCSC Ensembl
chr6:97708797..97708797hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693615
Supporting Variants
Samples
Known GenesMIR548H3, MMS22L
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17178574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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